PRENATAL ANALYSES IN A PREGNANCY AT RISK FOR BETA-MANNOSIDOSIS

被引：4

作者：

KLEIJER, WJ ^{[1
]}

GEILEN, GC ^{[1
]}

VANDIGGELEN, OP ^{[1
]}

WEVERS, RA ^{[1
]}

LOS, FJ ^{[1
]}

机构：

[1] UNIV HOSP NIJMEGEN,INST NEUROL,NIJMEGEN,NETHERLANDS

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 10期

关键词：

PRENATAL DIAGNOSIS; BETA-MANNOSIDOSIS; BETA-MANNOSIDASE DEFICIENCY;

D O I：

10.1002/pd.1970121011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.

引用

页码：841 / 843

页数：3

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